Nine V A M Knoers

Nine V A M Knoers

UNVERIFIED PROFILE

Are you Nine V A M Knoers?   Register this Author

Register author
Nine V A M Knoers

Nine V A M Knoers

Publications by authors named "Nine V A M Knoers"

Are you Nine V A M Knoers?   Register this Author

100Publications

2818Reads

32Profile Views

The genomic landscape of CAKUT; you gain some, you lose some.

Kidney Int 2019 Aug;96(2):267-269

Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.kint.2019.03.017DOI Listing
August 2019

Impact of next generation sequencing on our understanding of CAKUT.

Semin Cell Dev Biol 2019 Jul 5;91:104-110. Epub 2018 Sep 5.

Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, P.O.Box 85060, 3508 AB, Utrecht, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.semcdb.2018.08.013DOI Listing
July 2019

Importance of Genetic Diagnostics in Adult-Onset Focal Segmental Glomerulosclerosis.

Nephron 2019 16;142(4):351-358. Epub 2019 May 16.

Department of Genetics and Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000499937DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6727320PMC
May 2019

Changes in the urinary extracellular vesicle proteome are associated with nephronophthisis-related ciliopathies.

J Proteomics 2019 02 30;192:27-36. Epub 2018 Jul 30.

Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jprot.2018.07.008DOI Listing
February 2019

Outcomes and comorbidities of SCN1A-related seizure disorders.

Epilepsy Behav 2019 01 5;90:252-259. Epub 2018 Dec 5.

Department of Genetics, University Medical Center Utrecht, Utrecht University, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.yebeh.2018.09.041DOI Listing
January 2019

The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis.

Front Pediatr 2018 7;6:131. Epub 2018 May 7.

Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fped.2018.00131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5949343PMC
May 2018

Importance of reliable variant calling and clear phenotyping when reporting on gene panel testing in renal disease.

Kidney Int 2017 12;92(6):1325-1327

Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands; Center for Molecular Medicine, Utrecht, The Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.kint.2017.07.009DOI Listing
December 2017

Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.

Kidney Int 2017 01;91(1):24-33

Hôpital Européen Georges Pompidou, Assistance Publique Hôpitaux de Paris, Centre d'Investigation Clinique, Paris, France; Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.kint.2016.09.046DOI Listing
January 2017

Genetics of kidney disease in 2016: Ingenious tactics to unravel complex kidney disease genetics.

Nat Rev Nephrol 2017 01;13(2):67-68

Department of Genetics, Center for Molecular Medicine, KC04.084.2, University Medical Center Utrecht, PO BOX: 85090 3508 AB Utrecht, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nrneph.2016.192DOI Listing
January 2017

Pre-pregnancy advice in chronic kidney disease: do not forget genetic counseling.

Kidney Int 2016 10;90(4):905-6

Department of Obstetrics, Wilhelmina Children's Hospital Birth Center, University Medical Center, Utrecht, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.kint.2016.05.035DOI Listing
October 2016

The expanding phenotypic spectra of kidney diseases: insights from genetic studies.

Nat Rev Nephrol 2016 08 4;12(8):472-83. Epub 2016 Jul 4.

Department of Genetics, Center for Molecular Medicine, KC04.084.2, University Medical Center Utrecht, PO BOX: 85090 3508 AB Utrecht, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nrneph.2016.87DOI Listing
August 2016

Maternal risk factors involved in specific congenital anomalies of the kidney and urinary tract: A case-control study.

Birth Defects Res A Clin Mol Teratol 2016 Jul 4;106(7):596-603. Epub 2016 Apr 4.

Department for Health Evidence, Radboud Institute for Health Sciences, Radboud university medical center, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/bdra.23500DOI Listing
July 2016

MAGE-D2 and the Regulation of Renal Salt Transporters.

N Engl J Med 2016 May 27;374(19):1888-90. Epub 2016 Apr 27.

From the Department of Genetics and Center for Molecular Medicine, University Medical Center Utrecht, Utrecht (N.V.A.M.K.), and the Department of Physiology and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen (R.J.B.) - both in the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMe1603856DOI Listing
May 2016

Genetic, environmental, and epigenetic factors involved in CAKUT.

Nat Rev Nephrol 2015 Dec 18;11(12):720-31. Epub 2015 Aug 18.

Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, PO Box 85090, 3508 AB, Utrecht, Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nrneph.2015.140DOI Listing
December 2015

Meier-Gorlin syndrome.

Orphanet J Rare Dis 2015 Sep 17;10:114. Epub 2015 Sep 17.

Department of Human Genetics 836, Institute for Genetic and Metabolic Disease, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-015-0322-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4574002PMC
September 2015

Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia.

Nephrol Dial Transplant 2015 Jun 11;30(6):952-7. Epub 2015 Mar 11.

Department of Medical Genetics, University Medical Centre Utrecht, Utrecht 3508 AB, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/ndt/gfv014DOI Listing
June 2015

Diabetes-Induced Congenital Anomalies of the Kidney and Urinary Tract (CAKUT): Nurture and Nature at Work?

Am J Kidney Dis 2015 May;65(5):644-6

University Medical Center Utrecht, Utrecht, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1053/j.ajkd.2015.02.320DOI Listing
May 2015

Next-generation sequencing for research and diagnostics in kidney disease.

Nat Rev Nephrol 2014 Aug 10;10(8):433-44. Epub 2014 Jun 10.

Department of Medical Genetics, University Medical Center Utrecht, KC04.048.02, PO Box 85090, Utrecht, 3508 AB, Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nrneph.2014.95DOI Listing
August 2014

Early presentation of cystic kidneys in a family with a homozygous INVS mutation.

Am J Med Genet A 2014 Jul 26;164A(7):1627-34. Epub 2014 Mar 26.

Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36501DOI Listing
July 2014

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.

Eur J Hum Genet 2014 Jun 6;22(6):844-6. Epub 2013 Nov 6.

Department of Human Genetics, Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.249DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023223PMC
June 2014

Genetic and in vivo determinants of glucocorticoid sensitivity in relation to clinical outcome of childhood nephrotic syndrome.

Kidney Int 2014 Jun 15;85(6):1444-53. Epub 2014 Jan 15.

Division of Nephrology, Department of Pediatrics, Erasmus MC University Medical Centre-Sophia Children's Hospital, Rotterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ki.2013.531DOI Listing
June 2014

Practice guidelines for the diagnosis and management of microcytic anemias due to genetic disorders of iron metabolism or heme synthesis.

Blood 2014 Jun 24;123(25):3873-86; quiz 4005. Epub 2014 Mar 24.

Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands;

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1182/blood-2014-01-548776DOI Listing
June 2014

Rare inherited kidney diseases: challenges, opportunities, and perspectives.

Lancet 2014 May;383(9931):1844-59

Pediatric Nephrology Division, Center for Pediatric and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S0140-6736(14)60659-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4135047PMC
May 2014

Risk factors for different phenotypes of hypospadias: results from a Dutch case-control study.

BJU Int 2013 Jul 10;112(1):121-8. Epub 2013 Jan 10.

Departments of Epidemiology, Biostatistics and HTA, Radboud University Nijmegen Medical Centre, Nijmegen.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1464-410X.2012.11745.xDOI Listing
July 2013

Current insights into renal ciliopathies: what can genetics teach us?

Pediatr Nephrol 2013 Jun 25;28(6):863-74. Epub 2012 Jul 25.

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, and Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, 6525 GA, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00467-012-2259-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3631122PMC
June 2013

Congenital nephrogenic diabetes insipidus: the current state of affairs.

Pediatr Nephrol 2012 Dec 17;27(12):2183-204. Epub 2012 Mar 17.

Nijmegen Centre for Molecular Life Sciences Graduate School, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007%2Fs00467-012-21
Web Search
http://link.springer.com/10.1007/s00467-012-2118-8
Publisher Site
http://dx.doi.org/10.1007/s00467-012-2118-8DOI Listing
December 2012

Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.

Eur J Hum Genet 2012 Mar 19;20(3):263-70. Epub 2011 Oct 19.

Department of Physiology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2011.189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3283182PMC
March 2012

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Authors:
Sébastien Jacquemont Alexandre Reymond Flore Zufferey Louise Harewood Robin G Walters Zoltán Kutalik Danielle Martinet Yiping Shen Armand Valsesia Noam D Beckmann Gudmar Thorleifsson Marco Belfiore Sonia Bouquillon Dominique Campion Nicole de Leeuw Bert B A de Vries Tõnu Esko Bridget A Fernandez Fernando Fernández-Aranda José Manuel Fernández-Real Mònica Gratacòs Audrey Guilmatre Juliane Hoyer Marjo-Riitta Jarvelin R Frank Kooy Ants Kurg Cédric Le Caignec Katrin Männik Orah S Platt Damien Sanlaville Mieke M Van Haelst Sergi Villatoro Gomez Faida Walha Bai-Lin Wu Yongguo Yu Azzedine Aboura Marie-Claude Addor Yves Alembik Stylianos E Antonarakis Benoît Arveiler Magalie Barth Nathalie Bednarek Frédérique Béna Sven Bergmann Mylène Beri Laura Bernardini Bettina Blaumeiser Dominique Bonneau Armand Bottani Odile Boute Han G Brunner Dorothée Cailley Patrick Callier Jean Chiesa Jacqueline Chrast Lachlan Coin Charles Coutton Jean-Marie Cuisset Jean-Christophe Cuvellier Albert David Bénédicte de Freminville Bruno Delobel Marie-Ange Delrue Bénédicte Demeer Dominique Descamps Gérard Didelot Klaus Dieterich Vittoria Disciglio Martine Doco-Fenzy Séverine Drunat Bénédicte Duban-Bedu Christèle Dubourg Julia S El-Sayed Moustafa Paul Elliott Brigitte H W Faas Laurence Faivre Anne Faudet Florence Fellmann Alessandra Ferrarini Richard Fisher Elisabeth Flori Lukas Forer Dominique Gaillard Marion Gerard Christian Gieger Stefania Gimelli Giorgio Gimelli Hans J Grabe Agnès Guichet Olivier Guillin Anna-Liisa Hartikainen Délphine Heron Loyse Hippolyte Muriel Holder Georg Homuth Bertrand Isidor Sylvie Jaillard Zdenek Jaros Susana Jiménez-Murcia Géraldine Joly Helas Philippe Jonveaux Satu Kaksonen Boris Keren Anita Kloss-Brandstätter Nine V A M Knoers David A Koolen Peter M Kroisel Florian Kronenberg Audrey Labalme Emilie Landais Elisabetta Lapi Valérie Layet Solenn Legallic Bruno Leheup Barbara Leube Suzanne Lewis Josette Lucas Kay D MacDermot Pall Magnusson Christian Marshall Michèle Mathieu-Dramard Mark I McCarthy Thomas Meitinger Maria Antonietta Mencarelli Giuseppe Merla Alexandre Moerman Vincent Mooser Fanny Morice-Picard Mafalda Mucciolo Matthias Nauck Ndeye Coumba Ndiaye Ann Nordgren Laurent Pasquier Florence Petit Rolph Pfundt Ghislaine Plessis Evica Rajcan-Separovic Gian Paolo Ramelli Anita Rauch Roberto Ravazzolo Andre Reis Alessandra Renieri Cristobal Richart Janina S Ried Claudine Rieubland Wendy Roberts Katharina M Roetzer Caroline Rooryck Massimiliano Rossi Evald Saemundsen Véronique Satre Claudia Schurmann Engilbert Sigurdsson Dimitri J Stavropoulos Hreinn Stefansson Carola Tengström Unnur Thorsteinsdóttir Francisco J Tinahones Renaud Touraine Louis Vallée Ellen van Binsbergen Nathalie Van der Aa Catherine Vincent-Delorme Sophie Visvikis-Siest Peter Vollenweider Henry Völzke Anneke T Vulto-van Silfhout Gérard Waeber Carina Wallgren-Pettersson Robert M Witwicki Simon Zwolinksi Joris Andrieux Xavier Estivill James F Gusella Omar Gustafsson Andres Metspalu Stephen W Scherer Kari Stefansson Alexandra I F Blakemore Jacques S Beckmann Philippe Froguel

Nature 2011 Aug 31;478(7367):97-102. Epub 2011 Aug 31.

Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nature10406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637175PMC
August 2011

Clinical presentation and the presence of hearing impairment in branchio-oculo-facial syndrome: a new mutation in the TFAP2A gene.

Ann Otol Rhinol Laryngol 2010 Dec;119(12):806-14

Department of Otorhinolaryngology, Center for Clinical Neuroscience, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands.

View Article

Download full-text PDF

Source
http://journals.sagepub.com/doi/10.1177/000348941011901204
Publisher Site
http://dx.doi.org/10.1177/000348941011901204DOI Listing
December 2010

Genetics of hypospadias: are single-nucleotide polymorphisms in SRD5A2, ESR1, ESR2, and ATF3 really associated with the malformation?

J Clin Endocrinol Metab 2010 May 9;95(5):2384-90. Epub 2010 Mar 9.

Department of Epidemiology, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2009-2101DOI Listing
May 2010

[Work-related fatigue in highly-educated women older than 50].

Ned Tijdschr Geneeskd 2010 ;154:A1973

UMC St Radboud, Nijmegen, sectie Klinische Genetica, afd. Antropogenetica, The Netherlands.

View Article

Download full-text PDF

Source
April 2010

New molecular players facilitating Mg(2+) reabsorption in the distal convoluted tubule.

Kidney Int 2010 Jan;77(1):17-22

Department of Physiology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S008525381554115
Publisher Site
http://dx.doi.org/10.1038/ki.2009.358DOI Listing
January 2010

Gardner's syndrome (familial adenomatous polyposis): a cilia-related disorder.

Lancet Oncol 2009 Jul;10(7):727-35

Department of Genetics and Cell Biology, University Medical Centre, and Research Institute for Growth and Development (GROW), Maastricht, Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S1470-2045(09)70167-6DOI Listing
July 2009

Intracellular activation of vasopressin V2 receptor mutants in nephrogenic diabetes insipidus by nonpeptide agonists.

Proc Natl Acad Sci U S A 2009 Jul 8;106(29):12195-200. Epub 2009 Jul 8.

Department of Physiology, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://www.pnas.org/cgi/doi/10.1073/pnas.0900130106
Publisher Site
http://dx.doi.org/10.1073/pnas.0900130106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2715499PMC
July 2009

Genetic testing: considerations for pediatric nephrologists.

Semin Nephrol 2009 Jul;29(4):338-48

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.semnephrol.2009.03.010DOI Listing
July 2009

Inherited forms of renal hypomagnesemia: an update.

Pediatr Nephrol 2009 Apr 26;24(4):697-705. Epub 2008 Sep 26.

Department of Human Genetics 849, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00467-008-0968-x
Publisher Site
http://dx.doi.org/10.1007/s00467-008-0968-xDOI Listing
April 2009

Focus on molecules: RPGRIP1.

Exp Eye Res 2009 Mar 8;88(3):332-3. Epub 2008 Apr 8.

Department of Human Genetics and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, HB Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S001448350800105
Publisher Site
http://dx.doi.org/10.1016/j.exer.2008.03.019DOI Listing
March 2009

Gitelman syndrome.

Orphanet J Rare Dis 2008 Jul 30;3:22. Epub 2008 Jul 30.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1750-1172-3-22DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2518128PMC
July 2008

Aquaporin 2 mutations in nephrogenic diabetes insipidus.

Semin Nephrol 2008 May;28(3):252-65

Department of Physiology, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.semnephrol.2008.03.006DOI Listing
May 2008

Urine osmolality, cyclic AMP and aquaporin-2 in urine of patients under lithium treatment in response to water loading followed by vasopressin administration.

Eur J Pharmacol 2007 Jul 30;566(1-3):50-7. Epub 2007 Mar 30.

Utrecht University, Faculty of Science, Utrecht Institute for Pharmaceutical Sciences, Division of Pharmacoepidemiology and Pharmacotherapy, Utrecht, and Department of Clinical Pharmacy, TweeSteden hospital, Tilburg, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejphar.2007.03.038DOI Listing
July 2007

Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus.

Am J Physiol Renal Physiol 2006 Aug;291(2):F257-70

Department of Physiology, Nijmegen Centre for Molecular Life Sciences and Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1152/ajprenal.00491.2005DOI Listing
August 2006

Gitelman syndrome.

Adv Chronic Kidney Dis 2006 Apr;13(2):148-54

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S154855950600015
Publisher Site
http://dx.doi.org/10.1053/j.ackd.2006.01.014DOI Listing
April 2006

Teaching molecular genetics: Chapter 1--Background principles and methods of molecular biology.

Pediatr Nephrol 2006 Feb 31;21(2):169-76. Epub 2005 Dec 31.

Department of Human Genetics, University Medical Centre Nijmegen, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00467-005-2154-8
Publisher Site
http://dx.doi.org/10.1007/s00467-005-2154-8DOI Listing
February 2006

A unique case of PHACES syndrome confirming the assumption that PHACES syndrome and the sternal malformation-vascular dysplasia association are part of the same spectrum of malformations.

Clin Dysmorphol 2005 Oct;14(4):203-6

Department of Human Genetics, University Medical Centre Nijmegen, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
October 2005

Hyperactive vasopressin receptors and disturbed water homeostasis.

N Engl J Med 2005 May;352(18):1847-50

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMp058006DOI Listing
May 2005

Mutations in the human TBX4 gene cause small patella syndrome.

Am J Hum Genet 2004 Jun 21;74(6):1239-48. Epub 2004 Apr 21.

Department of Human Genetics, University Medical Center Nijmegen, 6500 HB Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1086/421331DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1182087PMC
June 2004

Dimeric architecture of the human bumetanide-sensitive Na-K-Cl Co-transporter.

J Am Soc Nephrol 2003 Dec;14(12):3039-46

Departments of Physiology, Pediatrics, and Human Genetics, University Medical Centre Nijmegen, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01.asn.0000097370.29737.5bDOI Listing
December 2003

Functional expression of the human thiazide-sensitive NaCl cotransporter in Madin-Darby canine kidney cells.

J Am Soc Nephrol 2003 Oct;14(10):2428-35

Department of Physiology, University Medical Centre Nijmegen, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01.asn.0000089832.52063.f5DOI Listing
October 2003

Genetic renal disorders with hypomagnesemia and hypocalciuria.

J Nephrol 2003 Mar-Apr;16(2):293-6

Department of Human Genetics, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
August 2003

The structural unit of the thiazide-sensitive NaCl cotransporter is a homodimer.

J Biol Chem 2003 Jul 18;278(27):24302-7. Epub 2003 Apr 18.

Department of Cell Physiology, University Medical Centre Nijmegen, P. O. Box 9101, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1074/jbc.M303101200DOI Listing
July 2003

Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome.

Int J Mol Med 2003 Jul;12(1):79-82

Laboratorio di Genetica Molecolare, Istituto G. Gaslini, 16148 Genova, Italy.

View Article

Download full-text PDF

Source
July 2003

Dominant isolated renal magnesium loss is caused by misrouting of the Na+,K+-ATPase gamma-subunit.

Ann N Y Acad Sci 2003 Apr;986:437-43

Department of Human Genetics, Institute of Cellular Signaling, University Medical Center Nijmegen, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1749-6632.2003.tb07226.xDOI Listing
April 2003